van Kuilenburg, André B P <br/><br/>
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.  [electronic resource] 

 -  Biochimica et biophysica acta  Jul 2012 
 - 1096-108 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0006-3002 
<br/><br/><label>Standard No.: </label>10.1016/j.bbadis.2012.04.001  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amidohydrolases--deficiency<br/>Amino Acid Sequence<br/>Amino Acid Substitution--physiology<br/>Aminoisobutyric Acids--blood<br/>Animals<br/>Biocatalysis<br/>Catalytic Domain--physiology<br/>Central Nervous System Diseases--enzymology<br/>Child<br/>Child, Preschool<br/>Drosophila melanogaster<br/>Escherichia coli<br/>Female<br/>Genotype<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Models, Molecular<br/>Molecular Sequence Data<br/>Mutagenesis, Site-Directed<br/>Mutation, Missense<br/>Point Mutation<br/>Protein Conformation<br/>Protein Interaction Domains and Motifs--physiology<br/>Purine-Pyrimidine Metabolism, Inborn Errors--enzymology<br/>Pyrimidines--metabolism<br/>Racial Groups--genetics<br/>beta-Alanine--blood